ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.
Mov Disord Clin Pract
; 5(6): 635-639, 2018.
Article
em En
| MEDLINE
| ID: mdl-30637285
ABSTRACT
BACKGROUND:
Disorders related to dysfunction of coenzyme (CoQ10) metabolism, including AarF domain containing kinase 3 gene (ADCK3) mutations, have received attention due to the potential for response to CoQ10 supplementation.METHODS:
We describe two new cases of neurological syndromes due to ADCK3 mutations that obtained striking benefit from CoQ10, and a third who did not. We also review 20 cases from the literature in which responses to CoQ10 were documented out of all 38 previously reported cases.RESULTS:
Despite the remarkable responses in some cases with ataxia and movement disorders (myoclonus, dystonia, tremor), overall, we were not able to identify variables that predicted response to CoQ10 supplementation.CONCLUSIONS:
Based on our experience and data from the literature, we recommend a minimum of 10 mg/kg/day of ubiquinone with titration up to 15 mg/kg/day, maintained at least for 6 months in order to obtain or exclude potential benefit from therapy.
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Bases de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
Idioma:
En
Revista:
Mov Disord Clin Pract
Ano de publicação:
2018
Tipo de documento:
Article